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rs113994025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994025(G;G)
Make rs113994025(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position44875648
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs113994025
ebirs113994025
HLIrs113994025
Exacrs113994025
Varsomers113994025
Maprs113994025
PheGenIrs113994025
hapmaprs113994025
1000 genomesrs113994025
hgdprs113994025
ensemblrs113994025
gopubmedrs113994025
geneviewrs113994025
scholarrs113994025
googlers113994025
pharmgkbrs113994025
gwascentralrs113994025
openSNPrs113994025
23andMers113994025
23andMe allrs113994025
SNP Nexus

SNPshotrs113994025
SNPdbers113994025
MSV3drs113994025
GWAS Ctlgrs113994025
Max Magnitude0
ClinVar
Risk rs113994025(G;G)
Alt rs113994025(G;G)
Reference rs113994025(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B3
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000001.10:g.45341320A>C
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso